Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report

Xiaoling Fu; Weixin Niu; Ji Li; Amber J Kiliti; Hikmat A Al-Ahmadie; Gopa Iyer; Sizhi Paul Gao; Qi Li

doi:10.18632/oncotarget.20700

Activating mutation of PDGFRB gene in a rare cardiac undifferentiated intimal sarcoma of the left atrium: a case report

Oncotarget. 2017 Sep 7;8(46):81709-81716. doi: 10.18632/oncotarget.20700. eCollection 2017 Oct 6.

Authors

Xiaoling Fu¹, Weixin Niu², Ji Li³, Amber J Kiliti⁴, Hikmat A Al-Ahmadie⁵, Gopa Iyer^{6

7}, Sizhi Paul Gao⁴, Qi Li¹

Affiliations

¹ Department of Medical Oncology, Shuguang Hospital, Shanghai University of Traditional Chinese Medicine, Shanghai, P.R. China.
² Department of Surgery, Zhongshan Hospital of Fudan University, Shanghai, P.R. China.
³ Department of Pancreatic Surgery, Huashan Hospital, Fudan University and Shanghai Medical School, Shanghai, P.R. China.
⁴ Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
⁵ Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
⁶ Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
⁷ Weill Cornell Medical College, Cornell University, New York, New York, USA.

Abstract

Cardiac sarcoma is a rare malignant tumor with undefined genetic mutations and no targeted therapy. Here in one rare case of undifferentiated cardiac intimal sarcoma (IS), a next-generation sequencing based assay, MSK-IMPACT (Memorial Sloan Kettering - Integrated Mutation Profiling of Actionable Cancer Targets), identified a somatic, activating mutation in PDGFRB, along with amplification of PDGFRA. This E472D mutation of PDGFRB was discovered for the first time in IS. These findings suggest that concurrent aberrant PDGFRA and PDGFRB signaling may be a diagnostic biomarker and molecular therapeutic target of IS of the heart.

Keywords: PDGFRA; PDGFRB; cardiac sarcoma; intimal sarcoma; memorial sloan kettering-integrated mutation profiling of actionable cancer targets.